A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558997



Internal ID15999720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53352620..53397846hg38UCSC Ensembl
Innerchr12:53746404..53791630hg19UCSC Ensembl
Innerchr12:52032671..52077897hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3845227
hg1945227
hg1845227
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv796282
Samples
Known GenesSP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558997
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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